A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4314n106



Internal ID22798142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:148124580..148129980hg38UCSC Ensembl
chrX:147206100..147211500hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg385401
hg195401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1141714, nsv1119370
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv4314n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer